中国麻风皮肤病杂志 ›› 2021, Vol. 37 ›› Issue (2): 92-95.doi: 10.12144/zgmfskin202102092

• 短篇论著 • 上一篇    下一篇

Bart综合征一例基因检测

刘静1,朱静2   

  1. 1淮北市人民医院（徐州医科大学淮北临床学院）皮肤科，安徽淮北，235000；
    2淮北市人民医院（徐州医科大学淮北临床学院）烧伤整形科，安徽淮北，235000
  • 出版日期:2021-02-15 发布日期:2021-02-02
  • 通讯作者: 刘静，E-mail: judialiu@163.com

Genetic detection in a neonate with Bart syndrome

LIU Jing1, ZHU Jing2   

  1. 1 Department of Dermatology, Huaibei People's Hospital (The Huaibei Clinical College of Xuzhou Medical University), Huaibei 235000, China; 
    2 Department of Burn and Plastic Surgery, Huaibei People's Hospital (The Huaibei Clinical College of Xuzhou Medical University), Huaibei 235000, China
  • Online:2021-02-15 Published:2021-02-02
  • Contact: LIU Jing, E-mail: judialiu@163.com

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摘要： 报道新生儿Bart综合征1例并对其及父母进行基因检测。患儿，男，40周，出生后即发现双下肢、足部、左手腕、面部皮肤缺失，无家族史。对患者及父母DNA进行二代测序及一代测序验证，结果示患儿COL7A1基因存在2个突变，即c.2005C>T和c.7922G>A，患儿母亲检测到突变c.2005C>T，父亲检测到突变c.7922G>A。诊断：Bart综合征。行预防创面感染等支持对症处理后，现病情好转。

关键词: 大疱性表皮松解症, Bart综合征, 基因测序

Abstract: A case of neonatal with Bart syndrome was reported and the genetic mutations in this patient and the parents were detected. A 40-week-old male infant presented with loss of skin in both lower limbs, feet, left wrist, and face after birth. He had no family history of Bart syndrome. The DNA analysis of the patient and parents was detected by second-generation sequencing and verified by first-generation sequencing, and the results showed that there were two mutations, c:2005C>T and c.7922G>A, in the COL7A1 gene. A mutation of c.2005C>T was from the mother, c.7922G>A from the father. The diagnosis of Bart syndrome was made. The patient was improved after symptomatic treatment.

Key words: epidermolysis bullosa, Bart syndrome, gene sequencing